Exploring the Genetics of Congenital Myasthenic Syndromes

Type of project: Basic, Personalized Medicine

Principal Investigator: Dr. Oana Caluseriu

Institutions Affiliated: University of Alberta

Student: Cassandra Janetzki-Flatt (UGRAD)

Awards funded to project: 1

Background: As genotyping becomes more affordable it offers a great opportunity to predict risk for certain disorders and provide more information to physicians when making a diagnosis. This project explores this approach through congenital myasthenic syndromes, which result in gradual loss of muscle tone and motor dysfunctions.

Findings: This is a currently funded project pending results

Implications: Personalized medicine is the future of medical practice and will require all types of information to plan and execute effective therapies based on the individualized diagnosis. This project is a pioneer in exploring the genetic component to personalized medicine.